Sulfatase-Modifying Factor 1

Alternative Names

  • SUMF1
  • C-Alpha-Formylglycine-Generating Enzyme FGE
  • FGLY-Generating Enzyme
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OMIM Number

607939

NCBI Gene ID

285362

Uniprot ID

Q8NBK3

Length

766,469 bases

No. of Exons

15

No. of isoforms

5

Protein Name

Formylglycine-Generating Enzyme

Molecular Mass

40556 Da

Amino Acid Count

374

Genomic Location

chr3:4,034,713-4,467,281

Gene Map Locus
3p26.1

Description

This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_182760.4:c.1045C>TLebanonNC_000003.12:g.4362224G>ALikely Pathogenic, PathogenicPathogenicMultiple Sulfatase DeficiencyNG_016225.2:g.110059C>T; NM_182760.4:c.1045C>T; NP_877437.2:p.Arg349Trp1378528462666
NM_182760.4:c.689A>GUnited Arab EmiratesNC_000003.12:g.4418046T>CLikely PathogenicMultiple Sulfatase DeficiencyNG_016225.2:g.54237A>G; NM_182760.4:c.689A>G; NP_877437.2:p.Glu230Gly
NM_182760.4:c.691dupUnited Arab EmiratesNC_000003.12:g.4418044dupPathogenicLikely PathogenicMultiple Sulfatase DeficiencyNG_016225.2:g.54239dup; NM_182760.4:c.691dup; NP_877437.2:p.Trp231LeufsTer11748337915928845
NM_182760.4:c.706C>TLebanonNC_000003.12:g.4418029G>APathogenicPathogenicMultiple Sulfatase DeficiencyNG_016225.2:g.54254C>T; NM_182760.4:c.706C>T; NP_877437.2:p.Arg236Ter7481696161323658
NM_182760.4:c.785A>GSaudi ArabiaNC_000003.12:g.4417183T>CLikely Pathogenic, Pathogenic, Uncertain SignificanceLikely PathogenicMultiple Sulfatase DeficiencyNG_016225.2:g.55100A>G; NM_182760.4:c.785A>G; NP_877437.2:p.Gln262Arg1064793391418724
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